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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHROOM3

Variant:p.S1656_P1657delFs

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SHROOM3

NM_020859.4:p.S1656_P1657delFs

hg38:chr4:76756700 AAGTC>A

Associated Papers

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Deshwar AR et al.

Clinical Genetics, 2020

32621286 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."